3E6U.A | LANCL1

General Structure Information 3e6u LANCL1 crystal structure of human lancl1 2.6Å AUTH W.ZHANG,L.WANG,Y.LIU,J.XU,G.ZHU,H.CANG,X.LI,AUTH 2 M.BARTLAM,K.HENSLEY,G.LI,Z.RAO,X.C.ZHANGTITL STRUCTURE OF HUMAN LANTHIONINE SYNTHETASE C-LIKETITL 2 PROTEIN 1 AND ITS INTERACTION WITH EPS8 ANDTITL 3 GLUTATHIONEREF GENES DEV. V. 23 1387 2009REFN ISSN 0890-9369PMID 19528316DOI 10.1101/GAD.1789209 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis […]

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3L6Y.C | CTNND1

General Structure Information 3l6y CTNND1 crystal structure of p120 catenin in complex with e-cadherin 3.0Å AUTH N.ISHIYAMA,S.H.LEE,S.LIU,G.Y.LI,M.J.SMITH,L.F.REICHARDT,AUTH 2 M.IKURATITL DYNAMIC AND STATIC INTERACTIONS BETWEEN P120 CATENIN ANDTITL 2 E-CADHERIN REGULATE THE STABILITY OF CELL-CELL ADHESION.REF CELL(CAMBRIDGE,MASS.) V. 141 117 2010REFN ISSN 0092-8674PMID 20371349DOI 10.1016/J.CELL.2010.01.017 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic […]

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2F6Q.B | ECI2

General Structure Information 2f6q ECI2 the crystal structure of human peroxisomal delta3, delta2 enoyl coa isomerase (peci) 1.95Å AUTH A.TURNBULL,P.LUKACIK,N.SHAFQAT,C.SMEE,G.BERRIDGE,K.GUO,AUTH 2 F.VON DELFT,J.WEIGELT,M.SUNDSTROM,C.ARROWSMITH,A.EDWARDS,AUTH 3 O.GILEADI,U.OPPERMANNTITL THE CRYSTAL STRUCTURE OF HUMAN PEROXISOMAL DELTA3, DELTA2TITL 2 ENOYL COA ISOMERASE (PECI)REF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped […]

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1D4T.A | SH2D1A

General Structure Information 1d4t SH2D1A crystal structure of the xlp protein sap in complex with a slam peptide 1.1Å AUTH F.POY,M.B.YAFFE,J.SAYOS,K.SAXENA,M.MORRA,J.SUMEGI,AUTH 2 L.C.CANTLEY,C.TERHORST,M.J.ECKTITL CRYSTAL STRUCTURES OF THE XLP PROTEIN SAP REVEAL ATITL 2 CLASS OF SH2 DOMAINS WITH EXTENDED,TITL 3 PHOSPHOTYROSINE-INDEPENDENT SEQUENCE RECOGNITION.REF MOL.CELL V. 4 555 1999REFN ISSN 1097-2765PMID 10549287DOI 10.1016/S1097-2765(00)80206-3 Variant Set Distributions […]

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3MTG.B | AHCYL1

General Structure Information 3mtg AHCYL1 crystal structure of human s-adenosyl homocysteine hydrolase-like 1 protein 2.64Å AUTH M.WISNIEWSKA,M.I.SIPONEN,C.H.ARROWSMITH,H.BERGLUND,AUTH 2 C.BOUNTRA,R.COLLINS,A.M.EDWARDS,S.FLODIN,A.FLORES,AUTH 3 S.GRASLUND,M.HAMMARSTROM,I.JOHANSSON,T.KARLBERG,AUTH 4 T.KOTENYOVA,M.MOCHE,P.NORDLUND,T.NYMAN,C.PERSSON,P.SCHUTZ,AUTH 5 A.G.THORSELL,L.TRESAUGUES,S.VAN DER BERG,E.WAHLBERG,AUTH 6 J.WEIGELT,M.WELIN,H.SCHULERTITL CRYSTAL STRUCTURE OF HUMAN S-ADENOSYL HOMOCYSTEINETITL 2 HYDROLASE-LIKE 1 PROTEINREF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis […]

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2C46.B | RNGTT

General Structure Information 2c46 RNGTT crystal structure of the human rna guanylyltransferase and 5-phosphatase 1.6Å AUTH J.DEBRECZENI,C.JOHANSSON,E.LONGMAN,O.GILEADI,P.SAVITSKYSMEE,AUTH 2 C.SMEE,G.BUNKOCZI,E.UGOCHUKWU,F.VON DELFT,M.SUNDSTROM,AUTH 3 J.WEIGELT,C.ARROWSMITH,A.EDWARDS,S.KNAPPTITL CRYSTAL STRUCTURE OF THE HUMAN RNA GUANYLYLTRANSFERASE ANDTITL 2 5-PHOSPHATASEREF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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3K27.A | EED

General Structure Information 3k27 EED complex structure of eed and trimethylated h3k9 1.76Å AUTH C.XU,C.BIAN,W.YANG,M.GALKA,H.OUYANG,C.CHEN,W.QIU,H.LIU,AUTH 2 A.E.JONES,F.MACKENZIE,P.PAN,S.S.LI,H.WANG,J.MINTITL BINDING OF DIFFERENT HISTONE MARKS DIFFERENTIALLY REGULATESTITL 2 THE ACTIVITY AND SPECIFICITY OF POLYCOMB REPRESSIVE COMPLEXTITL 3 2 (PRC2).REF PROC.NATL.ACAD.SCI.USA V. 107 19266 2010REFN ISSN 0027-8424PMID 20974918DOI 10.1073/PNAS.1008937107 Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons […]

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1T2A.D | GMDS

General Structure Information 1t2a GMDS crystal structure of human gdp-d-mannose 4,6-dehydratase 1.84Å AUTH M.VEDADI,J.R.WALKER,S.SHARMA,S.HOUSTON,G.WASNEY,AUTH 2 P.LOPPNAU,U.OPPERMANNTITL CRYSTAL STRUCTURE AND BIOPHYSICAL CHARACTERIZATIONTITL 2 OF HUMAN GDP-D-MANNOSE 4,6-DEHYDRATASEREF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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3DAL.A | PRDM1

General Structure Information 3dal PRDM1 methyltransferase domain of human pr domain-containing protein 1 1.65Å AUTH H.ZENG,M.F.AMAYA,T.ANTOSHENKO,A.DONG,P.LOPPNAU,AUTH 2 A.BOCHKAREV,J.MIN,A.N.PLOTNIKOV,H.WUTITL THE CRYSTAL STRUCTURE OF METHYLTRANSFERASE DOMAINTITL 2 OF HUMAN PR DOMAIN-CONTAINING PROTEIN 1REF TO BE PUBLISHEDREFN Variant Set Distributions Ripley’s K Analysis Plots Variant Set Comparisons Pathogenic Proximity Analysis Mapped Variants

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2L0T.B | STAM2

General Structure Information 2l0t STAM2 solution structure of the complex of ubiquitin and the vhs domain of stam2 -1.0Å AUTH A.LANGE,D.HOELLER,H.WIENK,O.MARCILLAT,J.M.LANCELIN,O.WALKERTITL NMR REVEALS A DIFFERENT MODE OF BINDING OF THE STAM2 VHSTITL 2 DOMAIN TO UBIQUITIN AND DIUBIQUITIN.REF BIOCHEMISTRY V. 50 48 2011REFN ISSN 0006-2960PMID 21121635DOI 10.1021/BI101594A Variant Set Distributions Ripley’s K Analysis Plots Variant […]

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